Description:
LEIGH SYNDROME; LS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Heritable Diseases PIGI Consented Sample |
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
Scottish, Welsh
|
Country of Origin
|
USA
|
Family Member
|
2
|
Family History
|
N
|
Relation to Proband
|
mother
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
7.44 |
Passage Frozen |
3 |
|
Remarks |
Unaffected carrier of SURF1 mutation; it is unknown which mutation this mother carries; affected son is GM28010 (fibroblast) and GM28862 (iPSC). |
Cumulative PDL at Freeze |
7.44 |
Passage Frozen |
3 |
Split Ratio |
1:3 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
3% |
Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Supplement |
- |
|
|